When Rutherford’s Ethan Fenn wasn’t meeting his milestones as a baby, his mother Amanda knew something wasn’t right.
“Ethan was our fourth child so we were pretty experienced by that time,” she said.
“When he was born everything seemed fine, then at 11 months old, it dawned on us he couldn’t sit up by himself and, at that stage, I took him to the doctor.
“We saw the paediatrician and they said: ‘Each child develops at their own rate,’ but that wasn’t good enough for me, I knew there was something wrong, he seemed very fragile, so we got a second opinion and they told me the same thing.
“But I knew something wasn’t right.”
As the saying goes, mother knows best, and Amanda saw a third paediatrician, who gave her different news.
“They said he looks dehydrated, admitted him to hospital, and did testing,” Mrs Fenn said.
Ethan was diagnosed with cystinosis, a rare genetic disorder that causes an accumulation of the amino acid cystine within cells, forming crystals that can build up and damage the cells.
These crystals negatively affect many systems in the body, especially the kidneys and eyes.
Mrs Fenn discovered the meaning behind the diagnosis on Google after a lack of information from doctors.
She was also pregnant with her fifth child at the time.
“I just assumed it was a medical term for infection,” she said.
“I was waiting for medication and, during that time, I Googled it and found it was an incurable rare disease, which, without treatment, causes death by the age of eight due to complete organ failure.
“For the rest of that day I had no idea what I was doing, it was a blur. I held him tightly and said: ‘We will get through it together.’”
Mrs Fenn and her husband then turned their concern to their three other children in the fear they too may have the genetic condition.
Luckily, they got the all clear and then, in time, went for baby number six.
“People called us silly, saying: ‘Why would you do it if you know it’s genetic?’ and we were like let it happen to us, we know what we’re doing, we know how to maintain a life, even though it was pretty overwhelming,” Mrs Fenn said.
“I gave up my job to be Ethan’s full-time carer.”
Ethan turns seven this month and is now a happy and healthy little boy.
“He has 10 different medications every six hours, so we wake at 3am every morning and he has his medication,” she said.
Ethan is also proving a force to be reckoned with in the karate world.
He started when he was three and he’s already two belts away from black.
“COVID ruined tournaments this year but he had one and did quite well, he’s ranked very high up in Australia, he doesn’t let cystinosis stop him from doing anything to be honest,” Mrs Fenn said.
To celebrate Ethan’s birthday, he’s not asking for presents. Instead, he’s organised a fundraiser for the Cystinosis Research Foundation.
Ethan wants to raise 1 cent for every tablet he has had since diagnosis – that’s $3,965.
He has also been collecting cans and bottles to raise funds. So far, Ethan’s collected close to 14,000, leading to a donation of $1,200.
“Money goes straight to CRF, they’re the ones finding a cure for him,” Mrs Fenn said.
“Ethan knows he needs the medication so he never fights with all the medication and blood tests, he’s a warrior, he just takes it on board and that’s life.”
To donate to Ethan’s fundraiser, visit ‘Ethan’s 7th birthday fundraiser for Cystinosis Research Foundation’ on Facebook.